[Determination of the polymorphism of DXS102 locus and its application in gene diagnosis].
OBJECTIVE
To determine the polymorphism of DXS102 and use it in gene diagnosis in hemophilia B.


METHODS
Amp-FLP and linkage analysis on 234 chromosomes.


RESULTS
Eight alleles were found at DXS102 locus. The number of AC dinucleotide repeats ranged from 13 to 21. And the observed heterozygosity, calculated heterozygosity and polymorphism information content(PIC) were 0.87, 0.80 and 0.80, respectively. It was noted that the difference of the allele frequencies of DXS102 in Chinese and European populations was significant. By using the linkage analysis of the DXS102 locus, a family with a hemophilia B patient receiving gene therapy in 1994 was analyzed and a carrier in that family was then detected.


CONCLUSIONS
The polymorphism of DXS102 locus reveals significant difference between Chinese and European populations. DXS102 locus can be used as a promising marker for gene diagnosis in hemophilia B family.
Bao
Y
Y
Institute of Genetics, Fudan University, Shanghai, 200433 P. R. China.
Lu
D
D
Shi
Q
Q
Xu
H
H
Qiu
X
X
Xue
J
J
D002874:Chromosome Mapping; D005260:Female; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012091:Repetitive Sequences, Nucleic Acid